Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans.

American Journal of Human Genetics
Mette GillingN Simon Thomas

Abstract

The pericentric inv(10)(p11.2q21.2) mutation has been frequently identified in cytogenetic laboratories, is phenotypically silent, and is considered to be a polymorphic variant. Cloning and sequencing of the junction fragments on 10p11 and 10q21 revealed that neither inversion breakpoint directly involved any genes or repetitive sequences, although both breakpoint regions contain a number of repeats. All 20 apparently unrelated inv(10) families in our study had identical breakpoints, and detailed haplotype analysis showed that the inversions were identical by descent. Thus, although considered a common variant, inv(10)(p11.2q21.2) has a single ancestral founder among northern Europeans.

References

Dec 24, 1997·Human Genetics·M N CollinsonP Roberts
Oct 5, 2001·Nature Reviews. Genetics·B S Emanuel, T H Shaikh
Dec 1, 2001·Human Molecular Genetics·H Kurahashi, B S Emanuel
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Citations

May 13, 2008·Human Genetics·N Simon ThomasPatricia A Jacobs
Aug 12, 2008·Bioinformatics·Iuliana Ionita-LazaChristoph Lange
Feb 11, 2012·BMC Bioinformatics·Alejandro CáceresJuan R González
Jul 6, 2014·Human Molecular Genetics·Sheroy MinocherhomjiAsli Silahtaroglu
Nov 21, 2013·Nucleic Acids Research·Alexander Martínez-FundichelyMario Cáceres
Feb 13, 2009·American Journal of Medical Genetics. Part a·Miriam EntesarianNiklas Dahl
Mar 24, 2011·European Journal of Medical Genetics·Mette GillingNiels Tommerup
Sep 10, 2020·Human Mutation·Maria PetterssonAnna Lindstrand
Mar 9, 2021·Open Medicine·Xinyue ZhangHongguo Zhang

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